Traits

Traits linked to NOD2

nucleotide binding oligomerization domain containing 2

The Human Phenotype Ontology links 78 traits to NOD2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Corneal inflammation	Very often (80–99%)
Iridocyclitis	Very often (80–99%)
Posterior uveitis	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Glaucoma	Often (30–79%)
Uveitis	Often (30–79%)
Abnormal choroid morphology	Sometimes (5–29%)
Inflammation of iris	Sometimes (5–29%)
Noninflammatory retina disease	Sometimes (5–29%)
Optic nerve issue	Sometimes (5–29%)
Retrobulbar optic neuritis	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Band keratopathy	Not recorded
Cystoid macular edema	Not recorded
Nongranulomatous uveitis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Very often (80–99%)
Abnormality of retina blood vessels	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)
Large vessel vasculitis	Sometimes (5–29%)
Swelling or irritation of membrane around heart	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Ventricular hypertrophy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Often (30–79%)
Diarrhea	Often (30–79%)
Abnormality of the liver	Sometimes (5–29%)
Crohn's disease	Not recorded
Inflammation of the large intestine	Not recorded
Intestinal fistula	Not recorded
Intestinal obstruction	Not recorded
Ulcerative colitis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Dry eye syndrome	Often (30–79%)
Abnormality of the salivary glands	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Decreased salivary flow	Sometimes (5–29%)
Mouth sore	Sometimes (5–29%)
Canker sore	Not recorded
Recurrent canker sores	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Abnormal inflammatory response	Very often (80–99%)
Inflammatory abnormality of the skin	Very often (80–99%)
Skin rash	Very often (80–99%)
Erythema nodosum	Often (30–79%)
Asthma	Not recorded
Eczema	Not recorded

Abnormality of the integument

Trait	How often it is seen
Intermittent generalized erythematous papular rash	Very often (80–99%)
Papule	Very often (80–99%)
Patchy darkened skin	Very often (80–99%)
Dry skin	Often (30–79%)
Ichthyosis	Sometimes (5–29%)
Open skin sore	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Very often (80–99%)
Limitation of joint mobility	Very often (80–99%)
Polyarticular arthritis	Very often (80–99%)
Synovitis	Very often (80–99%)
Tendonitis	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Clear cell renal cell carcinoma	Sometimes (5–29%)
Kidney damage	Sometimes (5–29%)
Stage 5 chronic kidney disease	Sometimes (5–29%)
Kidney stone	Not recorded

Laboratory abnormality

Trait	How often it is seen
Joint swelling	Very often (80–99%)
Episodic fever	Often (30–79%)
Fever	Often (30–79%)
High ESR	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Very often (80–99%)
Muscle ache	Often (30–79%)
Chest pain	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Permanent flexion of the finger	Very often (80–99%)
Flexion contracture of toe	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Sometimes (5–29%)
Inflammation of tissues lining lungs and chest	Not recorded

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)
Growth delay	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormality of the ear	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal cranial nerve morphology	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NOD2 and how often each is seen. Find out more at hpo.jax.org.

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